Malignant TFE3‐rearranged perivascular epithelioid cell neoplasm (PEComa) presenting as a subcutaneous mass. (1st March 2016)

• Record Type: Journal Article
• Authors: Shon, W.; Kim, J.; Sukov, W.; Reith, J.
• Is Part Of: British journal of dermatology. Volume 174:Number 3(2016)
• Page Start: 617
• Page End: 620
• Publication Date: 2016-03-01
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.14173
• Languages: English
• ISSNs: 0007-0963

Abstract

Summary: Perivascular epithelioid cell neoplasms (PEComas) are a group of mesenchymal tumours with concurrent melanocytic and myogenic differentiation. Although many cases are sporadic, PEComas can be associated with tuberous sclerosis. A distinct subset of deep‐seated PEComas has been shown to carry TFE3 fusions. To our knowledge, this is the first reported case of primary subcutaneous malignant PEComa with molecular confirmation of TFE3 gene rearrangement.